Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Patrizia Tarugi

Showing results (51-60 of 78) with videos related to

Pageof 8
Sort By:
Arteriosclerosis, Thrombosis, and Vascular Biology|December 16, 2006
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterolTommaso Fasano, Angelo B Cefalù, Enza Di Leo, et al.
Journal of Clinical Lipidology|June 30, 2019
Novel mutations of SAR1B gene in four children with chylomicron retention diseaseMaria Luisa Simone, Claudio Rabacchi, Zarife Kuloglu, et al.
Atherosclerosis|February 10, 2009
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindredLaura Calabresi, Peter Nilsson, Elisa Pinotti, et al.
Molecular Genetics and Metabolism|December 17, 2008
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemiaEnza Di Leo, Lucia Magnolo, Elisa Pinotti, et al.
European Journal of Preventive Cardiology|February 20, 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN RegistryLaura D'Erasmo, Simone Bini, Manuela Casula, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 6, 2008
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in TunisiaMohamed Najah, Enza Di Leo, Jelassi Awatef, et al.
Atherosclerosis|September 27, 2005
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemiaLivia Pisciotta, Claudio Priore Oliva, Angelo Baldassare Cefalù, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|January 17, 2012
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemiaDavide Noto, Angelo B Cefalù, Vincenza Valenti, et al.
Journal of Clinical Lipidology|February 20, 2016
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitisMaría José Ariza, Pedro Luis Martínez-Hernández, Daiana Ibarretxe, et al.
Journal of Lipid Research|February 11, 2003
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 geneSerena Altilia, Livia Pisciotta, Rita Garuti, et al.
Pageof 8

Showing results (51-60 of 78) with videos related to

Sort By:
Pageof 8
Arteriosclerosis, Thrombosis, and Vascular Biology|December 16, 2006
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterolTommaso Fasano, Angelo B Cefalù, Enza Di Leo, et al.
Journal of Clinical Lipidology|June 30, 2019
Novel mutations of SAR1B gene in four children with chylomicron retention diseaseMaria Luisa Simone, Claudio Rabacchi, Zarife Kuloglu, et al.
Atherosclerosis|February 10, 2009
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a Caucasian kindredLaura Calabresi, Peter Nilsson, Elisa Pinotti, et al.
Molecular Genetics and Metabolism|December 17, 2008
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemiaEnza Di Leo, Lucia Magnolo, Elisa Pinotti, et al.
European Journal of Preventive Cardiology|February 20, 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN RegistryLaura D'Erasmo, Simone Bini, Manuela Casula, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 6, 2008
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in TunisiaMohamed Najah, Enza Di Leo, Jelassi Awatef, et al.
Atherosclerosis|September 27, 2005
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemiaLivia Pisciotta, Claudio Priore Oliva, Angelo Baldassare Cefalù, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|January 17, 2012
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemiaDavide Noto, Angelo B Cefalù, Vincenza Valenti, et al.
Journal of Clinical Lipidology|February 20, 2016
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitisMaría José Ariza, Pedro Luis Martínez-Hernández, Daiana Ibarretxe, et al.
Journal of Lipid Research|February 11, 2003
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 geneSerena Altilia, Livia Pisciotta, Rita Garuti, et al.
Pageof 8